Caracterización clínica y molecular del cáncer de mama en varón

Abstract

[ES] El cáncer de mama en varón es una entidad poco frecuente y poco caracterizada y en la clínica habitual se considera a efectos de tratamiento y pronóstico como el cáncer de mama en mujer. Para saber más sobre esta entidad, nos hemos propuesto realizar un estudio descriptivo del cáncer de mama en varón en nuestro entorno. Para ello hemos revisado las historias clínicas de 46 pacientes diagnosticados de cáncer de mama en la Unidad de Consejo Genético de Cáncer Hereditario del Centro de Investigación del Cáncer, y hemos estudiado los genes BRCA1 y BRCA2 de dichos pacientes mediante secuenciación masiva. El 48% de los pacientes tenía antecedentes de cáncer de mama, y el 93% de los pacientes fueron diagnosticados de carcinoma ductal infiltrante. El 23% de los pacientes presentaron un grado de proliferación tumoral bajo, mientras que el 77% presentaron un grado de proliferación medio-alto. Todos los pacientes padecían un carcinoma de mama subtipo luminal, siendo el 55% de ellos luminal A y el 45% restante luminal B. En el 21% de los pacientes se hallaron mutaciones en los genes BRCA, siendo el 86% de ellas mutaciones patogénicas en BRCA2 y el 14% restante variantes de significado incierto en BRCA1. Los pacientes con CMV de nuestra área geográfica son similares a los de otras zonas; sin embargo, presentan mayor grado de proliferación tumoral y mayor expresión de receptores hormonales que el cáncer de mama en mujer. Asimismo, parece ser que las formas familiares en varones están más ligadas a BRCA2 que sus homólogas en mujeres.Breast cancer in men is a rare and poorly characterized entity and in the Usual clinic is considered for treatment and prognostic purposes as the cancer of mother in woman. To find out more about this entity, we have undertaken a descriptive study of male breast cancer in our environment. To this end, we have reviewed the stories clinics of 46 patients diagnosed with breast cancer in the Counseling Unit Hereditary Cancer Genetic Center for Cancer Research, and we have studied the BRCA1 and BRCA2 genes of these patients by sequencing massive. 48% of patients had a history of breast cancer, and 93% of patients were diagnosed with infiltrating ductal carcinoma. 23% of patients The tumour proliferation rate was low, while 77% showed a low level of medium-high proliferation rate. All the patients suffered from breast carcinoma luminal subtype, 55% of them luminal A and the remaining 45% luminal B. In 21% of the cases of the patients, mutations were found in the BRCA genes, 86% of whom were pathogenic mutations in BRCA2 and the remaining 14% variants of uncertain significance in BRCA1. CMV patients in our geographic area are similar to those in other areas; without However, they have a higher degree of tumor proliferation and greater expression of hormone receptors than breast cancer in women. It also appears that the Familial forms in males are more closely linked to BRCA2 than their female counterparts.Breast cancer in men is a rare and poorly characterized entity and in the Usual clinic is considered for treatment and prognostic purposes as the cancer of mother in woman. To find out more about this entity, we have undertaken a descriptive study of male breast cancer in our environment. To this end, we have reviewed the stories clinics of 46 patients diagnosed with breast cancer in the Counseling Unit Hereditary Cancer Genetic Center for Cancer Research, and we have studied the BRCA1 and BRCA2 genes of these patients by sequencing massive. 48% of patients had a history of breast cancer, and 93% of patients were diagnosed with infiltrating ductal carcinoma. 23% of patients The tumour proliferation rate was low, while 77% showed a low level of medium-high proliferation rate. All the patients suffered from breast carcinoma luminal subtype, 55% of them luminal A and the remaining 45% luminal B. In 21% of the cases of the patients, mutations were found in the BRCA genes, 86% of whom were pathogenic mutations in BRCA2 and the remaining 14% variants of uncertain significance in BRCA1. CMV patients in our geographic area are similar to those in other areas; without However, they have a higher degree of tumor proliferation and greater expression of hormone receptors than breast cancer in women. It also appears that the Familial forms in males are more closely linked to BRCA2 than their female counterparts.